PLA2G6, encoding a phospholipase A(2), is mutated in neurodegenerative disorders with high brain iron

Morgan, Neil; Westaway, Shawn; Morton, Jenny; Gregory, Allison; Gissen, Paul; Sonek, Scott; Cangul, Hakan; Coryell, Jason; Canham, Natalie; Nardocci, Nardo; Zorzi, Giovanna; Pasha, Shanaz; Rodriguez, Diana; Desguerre, Isabelle; Mubaidin, Amar; Bertini, Enrico; Trembath, Richard; Simonati, Alessandro; Schanen, Carolyn; Johnson, Colin; Levinson, Barbara; Woods, C.; Wilmot, Beth; Kramer, Patricia; Gitschier, Jane; Maher, Eamonn; Hayflick, Susan

doi:10.1038/ng1826

PLA2G6, encoding a phospholipase A(2), is mutated in neurodegenerative disorders with high brain iron

Morgan N. V., Westaway S. K., Morton J. E. V., Gregory A., Gissen P., Sonek S., ...More

NATURE GENETICS, vol.38, no.7, pp.752-754, 2006 (SCI-Expanded, Scopus)

Publication Type: Article / Article
Volume: 38 Issue: 7
Publication Date: 2006
Doi Number: 10.1038/ng1826
Journal Name: NATURE GENETICS
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Page Numbers: pp.752-754
Bursa Uludag University Affiliated: No

Abstract

Neurodegenerative disorders with high brain iron include Parkinson disease, Alzheimer disease and several childhood genetic disorders categorized as neuroaxonal dystrophies. We mapped a locus for infantile neuroaxonal dystrophy ( INAD) and neurodegeneration with brain iron accumulation (NBIA) to chromosome 22q12-q13 and identified mutations in PLA2G6, encoding a calcium-independent group VI phospholipase A(2), in NBIA, INAD and the related Karak syndrome. This discovery implicates phospholipases in the pathogenesis of neurodegenerative disorders with iron dyshomeostasis.